Canonical Allele Identifier: CA394884739

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154758-G-A
• MyVariant Identifiers: chr16:g.16248615G>A (hg19) ; chr16:g.16154758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154758G>A , CM000678.2:g.16154758G>A	GRCh38
NC_000016.9:g.16248615G>A , CM000678.1:g.16248615G>A	GRCh37
NC_000016.8:g.16156116G>A	NCBI36
NG_007558.2:g.73714C>T
NG_007558.3:g.73860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.941C>T
ENST00000622290.5:c.*250C>T	ENSP00000483331.2:n.*250C>T
ENST00000205557.12:c.4078C>T MANE Select	ENSP00000205557.7:p.Leu1360Phe
ENST00000640696.1:c.892C>T	ENSP00000492197.1:p.Leu298Phe
ENST00000205557.11:c.4078C>T	ENSP00000205557.7:p.Leu1360Phe
ENST00000456970.6:c.3703C>T	ENSP00000405002.2:n.3703C>T
ENST00000576204.5:n.941C>T
ENST00000622290.4:c.*1287C>T	ENSP00000483331.1:n.*1287C>T
NM_001171.5:c.4078C>T	NP_001162.4:p.Leu1360Phe
XM_011522479.1:c.4045C>T	XP_011520781.1:p.Leu1349Phe
XM_011522480.1:c.3736C>T	XP_011520782.1:p.Leu1246Phe
XM_011522481.1:c.3736C>T	XP_011520783.1:p.Leu1246Phe
XR_933134.1:n.539-5023G>A
NM_001351800.1:c.3736C>T	NP_001338729.1:p.Leu1246Phe
NR_147784.1:n.3740C>T
XM_011522479.2:c.4045C>T	XP_011520781.1:p.Leu1349Phe
XM_011522481.3:c.3736C>T	XP_011520783.1:p.Leu1246Phe
XM_017023212.1:c.3910C>T	XP_016878701.1:p.Leu1304Phe
XM_024450261.1:c.4114C>T	XP_024306029.1:p.Leu1372Phe
NM_001171.6:c.4078C>T MANE Select	NP_001162.5:p.Leu1360Phe