Canonical Allele Identifier: CA7925649

Gene: ABCC6

Linked Data

• dbSNP Id: rs753948841
• ExAC: 16:16259530 G / A
• gnomAD v2: 16-16259530-G-A
• MyVariant Identifiers: chr16:g.16259530G>A (hg19) ; chr16:g.16165673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165673G>A , CM000678.2:g.16165673G>A	GRCh38
NC_000016.9:g.16259530G>A , CM000678.1:g.16259530G>A	GRCh37
NC_000016.8:g.16167031G>A	NCBI36
NG_007558.2:g.62799C>T
NG_007558.3:g.62945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3256C>T	ENSP00000483331.2:p.Leu1086=
ENST00000205557.12:c.3256C>T MANE Select	ENSP00000205557.7:p.Leu1086=
ENST00000640696.1:c.271C>T	ENSP00000492197.1:p.Leu91=
ENST00000205557.11:c.3256C>T	ENSP00000205557.7:p.Leu1086=
ENST00000456970.6:c.3081C>T	ENSP00000405002.2:n.3081C>T
ENST00000622290.4:c.*465C>T	ENSP00000483331.1:n.*465C>T
NM_001171.5:c.3256C>T	NP_001162.4:p.Leu1086=
XM_011522479.1:c.3223C>T	XP_011520781.1:p.Leu1075=
XM_011522480.1:c.2914C>T	XP_011520782.1:p.Leu972=
XM_011522481.1:c.2914C>T	XP_011520783.1:p.Leu972=
XR_932836.1:n.3491C>T
XR_932837.1:n.3492C>T
XR_932838.1:n.3492C>T
NM_001351800.1:c.2914C>T	NP_001338729.1:p.Leu972=
NR_147784.1:n.3118C>T
XM_011522479.2:c.3223C>T	XP_011520781.1:p.Leu1075=
XM_011522481.3:c.2914C>T	XP_011520783.1:p.Leu972=
XM_017023212.1:c.3088C>T	XP_016878701.1:p.Leu1030=
XM_017023214.1:c.3256C>T	XP_016878703.1:p.Leu1086=
XM_024450261.1:c.3292C>T	XP_024306029.1:p.Leu1098=
XR_932836.2:n.3437C>T
XR_932837.3:n.3437C>T
XR_932838.3:n.3437C>T
NM_001171.6:c.3256C>T MANE Select	NP_001162.5:p.Leu1086=