Canonical Allele Identifier: CA2680454871

Gene: AHI1

Linked Data

• gnomAD v4: 6-135497745-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497745C>A , CM000668.2:g.135497745C>A	GRCh38
NC_000006.11:g.135818883C>A , CM000668.1:g.135818883C>A	GRCh37
NC_000006.10:g.135860576C>A	NCBI36
NG_008643.1:g.5021G>T
NG_008643.2:g.5021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679589.1:c.-364G>T	ENSP00000506644.1:n.-364G>T
ENST00000680033.1:c.-2261G>T	ENSP00000506426.1:n.-2261G>T
ENST00000681022.1:c.-2261G>T	ENSP00000505121.1:n.-2261G>T
ENST00000681340.1:c.-450G>T	ENSP00000505666.1:n.-450G>T
ENST00000681596.1:c.-5508G>T	ENSP00000505250.1:n.-5508G>T
ENST00000681841.1:c.-473G>T	ENSP00000504965.1:n.-473G>T
ENST00000265602.10:c.-364G>T	ENSP00000265602.6:n.-364G>T
ENST00000327035.10:c.-279G>T	ENSP00000322478.6:n.-279G>T
ENST00000367800.8:c.-217G>T	ENSP00000356774.4:n.-217G>T
ENST00000457866.6:c.-279G>T	ENSP00000388650.2:n.-279G>T
NM_001134830.1:c.-217G>T	NP_001128302.1:n.-217G>T
NM_001134831.1:c.-364G>T	NP_001128303.1:n.-364G>T
NM_001134832.1:c.-279G>T	NP_001128304.1:n.-279G>T
NM_017651.4:c.-279G>T	NP_060121.3:n.-279G>T
XM_011535912.1:c.-279G>T	XP_011534214.1:n.-279G>T
XM_011535913.1:c.-279G>T	XP_011534215.1:n.-279G>T
XM_011535914.1:c.-279G>T	XP_011534216.1:n.-279G>T
XM_011535915.1:c.-279G>T	XP_011534217.1:n.-279G>T
XM_011535916.1:c.-279G>T	XP_011534218.1:n.-279G>T
XR_942488.1:n.15G>T
XR_942489.1:n.15G>T
XR_942490.1:n.15G>T
XR_942491.1:n.15G>T
XR_942493.1:n.15G>T
XR_942494.1:n.15G>T
XR_942495.1:n.15G>T
NM_001350503.1:c.-473G>T	NP_001337432.1:n.-473G>T
NM_001350504.1:c.-364G>T	NP_001337433.1:n.-364G>T
XM_011535910.3:c.-535G>T	XP_011534212.1:n.-535G>T
XM_017010978.2:c.-364G>T	XP_016866467.1:n.-364G>T
XM_017010979.2:c.-364G>T	XP_016866468.1:n.-364G>T
XM_017010980.2:c.-364G>T	XP_016866469.1:n.-364G>T
XM_017010981.2:c.-364G>T	XP_016866470.1:n.-364G>T
XM_017010984.2:c.-364G>T	XP_016866473.1:n.-364G>T
XM_024446479.1:c.-279G>T	XP_024302247.1:n.-279G>T
XM_024446480.1:c.-364G>T	XP_024302248.1:n.-364G>T
XR_001743479.2:n.27G>T
XR_001743480.2:n.27G>T
XR_001743481.2:n.27G>T
XR_001743482.2:n.27G>T
XR_001743483.2:n.27G>T
XR_001743484.2:n.27G>T
XR_001743485.2:n.27G>T
XR_001743486.2:n.27G>T
XR_001743487.2:n.27G>T
XR_001743489.2:n.27G>T
XR_001743490.2:n.27G>T
XR_002956286.1:n.27G>T
XR_002956287.1:n.27G>T