Canonical Allele Identifier: CA621197283

Gene: ABCC6

Linked Data

• dbSNP Id: rs1249056200
• gnomAD v2: 16-16243725-G-A
• gnomAD v3: 16-16149868-G-A
• gnomAD v4: 16-16149868-G-A
• MyVariant Identifiers: chr16:g.16243725G>A (hg19) ; chr16:g.16149868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149868G>A , CM000678.2:g.16149868G>A	GRCh38
NC_000016.9:g.16243725G>A , CM000678.1:g.16243725G>A	GRCh37
NC_000016.8:g.16151226G>A	NCBI36
NG_007558.2:g.78604C>T
NG_007558.3:g.78750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*949C>T	ENSP00000483331.2:n.*949C>T
ENST00000205557.12:c.*265C>T MANE Select	ENSP00000205557.7:n.*265C>T
ENST00000640696.1:c.1591C>T	ENSP00000492197.1:n.1591C>T
ENST00000205557.11:c.*265C>T	ENSP00000205557.7:n.*265C>T
ENST00000576204.5:n.1640C>T
ENST00000622290.4:c.*1986C>T	ENSP00000483331.1:n.*1986C>T
NM_001171.5:c.*265C>T	NP_001162.4:n.*265C>T
XM_011522479.1:c.*265C>T	XP_011520781.1:n.*265C>T
XM_011522480.1:c.*265C>T	XP_011520782.1:n.*265C>T
XM_011522481.1:c.*265C>T	XP_011520783.1:n.*265C>T
XR_933134.1:n.538+5578G>A
NM_001351800.1:c.*265C>T	NP_001338729.1:n.*265C>T
NR_147784.1:n.4439C>T
XM_011522479.2:c.*265C>T	XP_011520781.1:n.*265C>T
XM_011522481.3:c.*265C>T	XP_011520783.1:n.*265C>T
XM_017023212.1:c.*265C>T	XP_016878701.1:n.*265C>T
XM_024450261.1:c.*265C>T	XP_024306029.1:n.*265C>T
NM_001171.6:c.*265C>T MANE Select	NP_001162.5:n.*265C>T